RTD
MCID: RNL028
MIFTS: 59

Renal Tubular Dysgenesis (RTD) malady

Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases categories
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Summaries for Renal Tubular Dysgenesis

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Genetics Home Reference:21 Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

MalaCards based summary: Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to oligohydramnios and hypertension, and has symptoms including hypertelorism, hypoplastic lungs/pulmonary hypoplasia/agenesis and polycystic kidneys. An important gene associated with Renal Tubular Dysgenesis is AGT (angiotensinogen (serpin peptidase inhibitor, clade A, member 8)), and among its related pathways are Gastrin-CREB signalling pathway via PKC and MAPK and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. The compounds ibopamine and alacepril have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and liver, and related mouse phenotypes are renal/urinary system and cardiovascular system.

Description from OMIM:46 267430

Aliases & Classifications for Renal Tubular Dysgenesis

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Renal Tubular Dysgenesis, Aliases & Descriptions:

Name: Renal Tubular Dysgenesis 42 21 46 44 48 62
Primitive Renal Tubule Syndrome 42 21 48 62
Allanson Pantzar Mcleod Syndrome 21 62
 
Renotubular Dysgenesis 48 62
Rtd 42 62
Renal Tubular Dysgenesis of Genetic Origin 48


Classifications:



External Ids:

OMIM46 267430
ICD10 via Orphanet26 Q63.8
UMLS via Orphanet63 C0266313

Related Diseases for Renal Tubular Dysgenesis

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Diseases in the Renal Tubular Dysgenesis family:

Renal Tubular Dysgenesis, Ace-Related Renal Tubular Dysgenesis, Agt-Related
Renal Tubular Dysgenesis, Agtr1-Related Renal Tubular Dysgenesis, Ren-Related
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion

Diseases related to Renal Tubular Dysgenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1oligohydramnios31.3ACE
2hypertension29.7REN, ACE, AGT, AGTR1
3hemochromatosis10.4
4neonatal hemochromatosis10.4
5fibromuscular dysplasia10.4REN
6hypoaldosteronism10.4REN
7renal tubular dysgenesis, ace-related10.4
8renal tubular dysgenesis, agt-related10.4
9renal tubular dysgenesis, agtr1-related10.4
10renal tubular dysgenesis, ren-related10.4
11renal tubular dysgenesis due to twin-twin transfusion10.4
12renal tubular dysgenesis drugs-related10.4
13portal hypertension10.4REN
14hepatorenal syndrome10.3REN
15congestive heart failure10.3REN
16mitral valve prolapse10.3AGTR1
17nephrocalcinosis10.2
18nephronophthisis10.2
19microcephaly10.2
20intestinal perforation10.2
21ischemia10.2
22kidney disease10.2
23twin twin transfusion syndrome10.2
24meconium ileus10.2
25nephritis10.2
26ileus10.2
27juvenile nephronophthisis10.2
28malignant hypertension10.2REN, ACE
29hypertension, diastolic10.2REN, ACE
30renal hypertension10.1REN, ACE
31angioedema10.1AGT, ACE
32pure autonomic failure10.1REN, ACE
33gitelman syndrome10.1REN, AGT
34hypokalemia10.1ACE, REN
35nephrosclerosis10.1AGTR1, ACE
36polycystic kidney disease, autosomal dominant10.1REN, ACE
37hypertensive heart disease10.0ACE, AGTR1
38nephrotic syndrome10.0ACE, AGT
39stroke, ischemic10.0ACE, REN
40erythrocytosis10.0AGTR1, ACE
41vesicoureteral reflux10.0AGT, AGTR1
42focal segmental glomerulosclerosis10.0ACE, AGTR1
43conn's syndrome10.0REN, AGTR1
44cerebrovascular disease10.0AGTR1, ACE
45liver cirrhosis10.0AGT, REN
46adrenal cortical adenoma9.9AGTR1, REN
47pulmonary fibrosis9.9AGTR1, AGT
48diabetic retinopathy9.8AGTR1, AGT, ACE
49berger disease9.8ACE, AGT, AGTR1
50familial hyperlipidemia9.8AGTR1, AGT, ACE

Graphical network of the top 20 diseases related to Renal Tubular Dysgenesis:



Diseases related to renal tubular dysgenesis

Symptoms for Renal Tubular Dysgenesis

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Symptoms by clinical synopsis from OMIM:

267430

Clinical features from OMIM:

267430

Symptoms:

48 (show all 14)
  • hypertelorism
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • polycystic kidneys
  • renal tubular defect/tubulopathy
  • hyperextensible joints/articular hyperlaxity
  • autosomal recessive inheritance
  • stillbirth/neonatal death
  • polyhydramnios
  • prematurity
  • microcephaly
  • simian crease/transverse/unique palmar crease
  • tetralogy of fallot/trilogy of fallot
  • renal disease/nephropathy
  • oligoamnios

HPO human phenotypes related to Renal Tubular Dysgenesis:

(show all 22)
id Description Frequency HPO Source Accession
1 abnormality of the renal tubule hallmark (90%) HP:0000091
2 polycystic kidney dysplasia hallmark (90%) HP:0000113
3 hypertelorism hallmark (90%) HP:0000316
4 joint hypermobility hallmark (90%) HP:0001382
5 polyhydramnios hallmark (90%) HP:0001561
6 premature birth hallmark (90%) HP:0001622
7 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
8 nephropathy occasional (7.5%) HP:0000112
9 microcephaly occasional (7.5%) HP:0000252
10 single transverse palmar crease occasional (7.5%) HP:0000954
11 oligohydramnios occasional (7.5%) HP:0001562
12 tetralogy of fallot occasional (7.5%) HP:0001636
13 autosomal recessive inheritance HP:0000007
14 microcephaly HP:0000252
15 oligohydramnios HP:0001562
16 potter facies HP:0002009
17 pulmonary hypoplasia HP:0002089
18 respiratory insufficiency HP:0002093
19 hypotension HP:0002615
20 widely patent fontanelles and sutures HP:0004492
21 renotubular dysgenesis HP:0008660
22 anuria HP:0100519

Drugs & Therapeutics for Renal Tubular Dysgenesis

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Drug clinical trials:

Search ClinicalTrials for Renal Tubular Dysgenesis

Search NIH Clinical Center for Renal Tubular Dysgenesis

Genetic Tests for Renal Tubular Dysgenesis

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Anatomical Context for Renal Tubular Dysgenesis

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MalaCards organs/tissues related to Renal Tubular Dysgenesis:

32
Kidney, Lung, Liver, Placenta, Fetal liver

Animal Models for Renal Tubular Dysgenesis or affiliated genes

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MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1AGTR1, AGT, ACE, REN
2MP:00053858.1REN, ACE, AGT, AGTR1
3MP:00053878.0AGTR1, AGT, ACE, REN
4MP:00107688.0AGTR1, AGT, ACE, REN
5MP:00053787.9REN, ACE, AGT, AGTR1
6MP:00053767.7REN, ACE, AGT, AGTR1

Publications for Renal Tubular Dysgenesis

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Articles related to Renal Tubular Dysgenesis:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Renal tubular dysgenesis. (23636579)
2014
2
Recurrent massive perivillous fibrin deposition in the placenta associated with fetal renal tubular dysgenesis: case report and literature review. (23899317)
2013
3
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. (22095942)
2012
4
Impaired proteostasis contributes to renal tubular dysgenesis. (21695262)
2011
5
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. (21265929)
2011
6
Renin-angiotensin system in kidney development: renal tubular dysgenesis. (19924102)
2010
7
Non-specific histopathological changes in kidney with renal tubular dysgenesis. (19616900)
2010
8
Inherited renal tubular dysgenesis may not be universally fatal. (20607303)
2010
9
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. (19809376)
2010
10
A further case of renal tubular dysgenesis surviving the neonatal period. (18478260)
2009
11
Congenital unilateral renal tubular dysgenesis and severe neonatal hypertension. (18982358)
2009
12
Renal tubular dysgenesis in Israel: pathologist's experience and literature review. (19344005)
2009
13
Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. (17443344)
2008
14
Renal tubular dysgenesis: report of two cases in a non-consanguineous couple and review of the literature. (17003548)
2007
15
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations. (17036344)
2006
16
Renal tubular dysgenesis with atypical histology and in-utero exposure to naproxen sodium. (16925962)
2006
17
Renal tubular dysgenesis associated with in utero exposure to Nimuselide. (16328538)
2006
18
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system. (16790508)
2006
19
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (16116425)
2005
20
Renal tubular dysgenesis with hypoplastic calvaria: report of two cases. (15517826)
2004
21
Renal tubular dysgenesis-a case presentation. (15641273)
2004
22
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. (14677054)
2004
23
Renal tubular dysgenesis complicated with severe cranium hypoplasia. (15043673)
2004
24
Renal tubular dysgenesis. (12908566)
2003
25
Renal tubular dysgenesis in an hydropic fetus with trisomy 21: a case report with literature review. (15018458)
2003
26
Renal tubular dysgenesis and multiple intestinal perforation. (12447649)
2003
27
Renal tubular dysgenesis in siblings. (12908573)
2003
28
Renal tubular dysgenesis with medullary ray nodules. (12644933)
2003
29
Fibroepithelial bladder polyp and renal tubular dysgenesis: an unusual cause of third-trimester oligohydramnios. (11549150)
2001
30
Lysozyme immunostaining in renal tubular dysgenesis. (10679040)
2000
31
Renal tubular dysgenesis-like lesions and hypocalvaria. Report of two cases involving indomethacin. (11186177)
2000
32
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. (11156331)
2000
33
Oxalate nephrocalcinosis in renal tubular dysgenesis. (10671031)
1999
34
Renal tubular dysgenesis in twin-twin transfusion syndrome. (9841703)
1999
35
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. (9856560)
1998
36
Renal tubular dysgenesis in twins. (9686962)
1998
37
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review. (9350819)
1997
38
Renal tubular dysgenesis: a cause of second trimester oligohydramnios. (9321784)
1997
39
Renal tubular dysgenesis with microcephaly. (9260254)
1997
40
Renal tubular dysgenesis: a report of two cases. (8979193)
1996
41
Familial renal tubular dysgenesis: a disorder not isolated to proximal convoluted tubules. (8705201)
1995
42
Renal tubular dysgenesis without pulmonary hypoplasia. (8018503)
1994
43
Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease. (8159624)
1994
44
Renal tubular dysgenesis. (8160762)
1994
45
Renal tubular dysgenesis: a description of early renal maldevelopment in siblings. (8464784)
1993
46
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. (1642268)
1992
47
Renal tubular dysgenesis. (1853827)
1991
48
Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type. (1877630)
1991
49
Renal tubular dysgenesis: delayed onset of oligohydramnios. (2650547)
1989
50
Renal tubular dysgenesis. (3211817)
1988

Variations for Renal Tubular Dysgenesis

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UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Dysgenesis:

64
id Symbol AA change Variation ID SNP ID
1AGTp.Arg375GlnVAR_035433
2AGTR1p.Thr282MetVAR_035086
3RENp.Arg230LysVAR_035087
4RENp.Asp104AsnVAR_035088

Clinvar genetic disease variations for Renal Tubular Dysgenesis:

6 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1RENNM_000537.3(REN): c.145C> T (p.Arg49Ter)single nucleotide variantPathogenicrs121917741GRCh37Chr 1, 204131245: 204131245
2RENNM_000537.3(REN): c.689G> A (p.Arg230Lys)single nucleotide variantPathogenicrs121917742GRCh37Chr 1, 204128527: 204128527
3ACENM_000789.3(ACE): c.798C> G (p.Tyr266Ter)single nucleotide variantPathogenicrs121912704GRCh37Chr 17, 61557840: 61557840
4ACENM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs)deletionPathogenicrs387906576GRCh37Chr 17, 61560027: 61560030
5AGTR1NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs)duplicationPathogenicrs387906577GRCh37Chr 3, 148458932: 148458933
6AGTR1NM_031850.3(AGTR1): c.950C> T (p.Thr317Met)single nucleotide variantPathogenicrs104893677GRCh37Chr 3, 148459667: 148459667
7AGTNM_000029.3(AGT): c.1124G> A (p.Arg375Gln)single nucleotide variantPathogenicrs74315283GRCh37Chr 1, 230841679: 230841679
8AGTNM_000029.3(AGT): c.604C> T (p.Gln202Ter)single nucleotide variantPathogenicrs121912702GRCh37Chr 1, 230845993: 230845993
9AGTNM_000029.3(AGT): c.1290delT (p.Phe430Leufs)deletionPathogenicrs387906578GRCh37Chr 1, 230839055: 230839055
10AGTR1NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter)single nucleotide variantPathogenicrs398122935GRCh37Chr 3, 148459073: 148459073
11AGTR1NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter)single nucleotide variantPathogenicrs397514687GRCh37Chr 3, 148459198: 148459198
12ACENM_000789.3(ACE): c.1486C> T (p.Arg496Ter)single nucleotide variantPathogenicrs397514688GRCh37Chr 17, 61560533: 61560533
13ACENM_000789.3(ACE): c.2371C> T (p.Arg791Ter)single nucleotide variantPathogenicrs397514689GRCh37Chr 17, 61566074: 61566074
14RENNM_000537.3(REN): c.127C> T (p.Arg43Ter)single nucleotide variantPathogenicrs397514690GRCh37Chr 1, 204131263: 204131263
15RENNM_000537.3(REN): c.404C> A (p.Ser135Tyr)single nucleotide variantPathogenicrs397514691GRCh37Chr 1, 204129776: 204129776

Expression for genes affiliated with Renal Tubular Dysgenesis

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Expression patterns in normal tissues for genes affiliated with Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.

Pathways for genes affiliated with Renal Tubular Dysgenesis

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Pathways related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1AGTR1, AGT
2
Show member pathways
8.8AGT, ACE, REN
3
Show member pathways
8.8REN, ACE, AGT
4
Show member pathways
8.0AGTR1, AGT, ACE, REN
5
Show member pathways
8.0AGTR1, AGT, ACE, REN

Compounds for genes affiliated with Renal Tubular Dysgenesis

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Compounds related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1ibopamine449.3ACE, REN
2alacepril449.3ACE, REN
3temocaprilat449.3AGTR1, ACE
4sampatrilat449.2ACE, REN
5remikiren44 1110.2REN, ACE, AGT
6enalaprilat449.2REN, ACE, AGT
7pd12331944 2810.0ACE, AGT, AGTR1
8lacidipine448.9REN, ACE, AGTR1
9cilazapril44 119.9REN, ACE, AGTR1
10trandolapril44 119.9REN, ACE, AGTR1
11eplerenone44 61 28 1111.9REN, ACE, AGTR1
12fosinopril44 119.9REN, ACE, AGTR1
13quinapril44 50 1110.9REN, ACE, AGTR1
14ramipril44 119.8AGTR1, ACE, REN
15hydralazine44 50 1110.8AGTR1, ACE, REN
16thiazide448.8REN, ACE, AGTR1
17felodipine44 28 1110.8AGTR1, ACE, REN
18dihydropyridine448.8AGTR1, ACE, REN
19spironolactone44 61 28 50 1112.8REN, ACE, AGTR1
20carvedilol44 50 28 1111.8AGTR1, ACE, REN
21nitroglycerin44 119.7REN, ACE, AGTR1
22digoxin44 61 50 24 1112.7AGTR1, ACE, REN
23furosemide44 61 28 50 24 1113.7REN, ACE, AGTR1
24aliskiren44 119.4AGTR1, AGT, ACE, REN
25saralasin448.4REN, ACE, AGT, AGTR1
26eprosartan44 28 1110.4REN, ACE, AGT, AGTR1
27olmesartan44 28 1110.4AGTR1, AGT, ACE, REN
28benazepril44 50 1110.4REN, ACE, AGT, AGTR1
29lisinopril44 50 24 1111.4REN, ACE, AGT, AGTR1
30chymostatin448.4AGTR1, AGT, ACE, REN
31valsartan44 61 28 1111.4REN, ACE, AGT, AGTR1
32perindopril44 50 1110.4REN, ACE, AGT, AGTR1
33telmisartan44 28 1110.4REN, ACE, AGT, AGTR1
34atenolol44 50 28 24 1112.4REN, ACE, AGT, AGTR1
35irbesartan44 28 50 1111.4REN, ACE, AGT, AGTR1
36diltiazem44 28 50 1111.4REN, ACE, AGT, AGTR1
37candesartan44 50 28 1111.4REN, ACE, AGT, AGTR1
38hydrochlorothiazide44 28 50 24 1112.4REN, ACE, AGT, AGTR1
39amlodipine44 50 24 1111.4REN, ACE, AGT, AGTR1
40enalapril44 50 1110.4REN, ACE, AGT, AGTR1
41ang ii448.4REN, ACE, AGT, AGTR1
42captopril44 61 50 28 1112.4REN, ACE, AGT, AGTR1
43losartan44 50 28 1111.4AGTR1, AGT, ACE, REN
44nifedipine44 28 50 1111.3REN, ACE, AGT, AGTR1
45prostacyclin448.3REN, ACE, AGT, AGTR1
46norepinephrine44 24 1110.2AGTR1, AGT, ACE, REN
47potassium44 24 1110.2AGTR1, AGT, ACE, REN
48sodium44 249.1AGTR1, AGT, ACE, REN
49creatinine448.1REN, ACE, AGT, AGTR1
50cholesterol44 28 24 1110.7REN, ACE, AGT, AGTR1

GO Terms for genes affiliated with Renal Tubular Dysgenesis

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Cellular components related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.8AGT, ACE, REN
2extracellular spaceGO:0056158.5AGT, ACE, REN

Biological processes related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1regulation of renal output by angiotensinGO:0020199.8ACE, AGT
2blood vessel remodelingGO:0019749.6AGT, ACE
3regulation of blood vessel size by renin-angiotensinGO:0020349.4AGTR1, AGT
4positive regulation of NAD(P)H oxidase activityGO:0338649.4AGTR1, AGT
5regulation of renal sodium excretionGO:0358139.4AGT, AGTR1
6regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.4AGTR1, ACE
7positive regulation of cholesterol esterificationGO:0108739.4AGTR1, AGT
8regulation of vasodilationGO:0423129.4ACE, AGTR1
9low-density lipoprotein particle remodelingGO:0343749.4AGTR1, AGT
10positive regulation of cellular protein metabolic processGO:0322709.4AGTR1, AGT
11positive regulation of macrophage derived foam cell differentiationGO:0107449.3AGT, AGTR1
12positive regulation of reactive oxygen species metabolic processGO:20003799.3AGTR1, AGT
13phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.2AGT, AGTR1
14regulation of blood pressureGO:0082179.2REN, ACE
15angiotensin maturationGO:0020039.1REN, ACE, AGT
16positive regulation of inflammatory responseGO:0507299.1AGTR1, AGT
17regulation of cell proliferationGO:0421279.1AGTR1, AGT
18regulation of vasoconstrictionGO:0192298.9AGTR1, AGT, ACE
19cellular protein metabolic processGO:0442678.9AGT, ACE, REN
20renin-angiotensin regulation of aldosterone productionGO:0020188.9AGTR1, AGT, REN
21regulation of cell growthGO:0015588.8AGTR1, AGT
22kidney developmentGO:0018228.3AGTR1, AGT, ACE, REN

Molecular functions related to Renal Tubular Dysgenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:0317119.1AGTR1, ACE

Products for genes affiliated with Renal Tubular Dysgenesis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Renal Tubular Dysgenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet